Chromosome 1
Template:Short description Template:Infobox chromosome Chromosome 1 is the designation for the largest human chromosome. Humans have two copies of chromosome 1, as they do with all of the autosomes, which are the non-sex chromosomes. Chromosome 1 spans about 249 million nucleotide base pairs, which are the basic units of information for DNA.[1] It represents about 8% of the total DNA in human cells.[2]
It was the last completed chromosome, sequenced two decades after the beginning of the Human Genome Project.
Genes
Number of genes
The following are some of the gene count estimates of human chromosome 1. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project (CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.[3]
| Estimated by | Protein-coding genes | Non-coding RNA genes | Pseudogenes | Source | Release date |
|---|---|---|---|---|---|
| CCDS | 1,961 | — | — | [4] | 2016-09-08 |
| HGNC | 1,993 | 707 | 1,113 | [5] | 2017-05-12 |
| Ensembl | 2,044 | 1,924 | 1,223 | [6] | 2017-03-29 |
| UniProt | 2,064 | — | — | [7] | 2018-02-28 |
| NCBI | 2,093 | 1,790 | 1,426 | [8][9][10] | 2017-05-19 |
Gene list
Script error: No such module "Category see also".Template:Category see also/Category pair check The following is a partial list of genes on human chromosome 1. For complete list, see the link in the infobox on the right.
- C1orf112: encoding protein Chromosome 1 open reading frame 112
- C1orf127: encoding protein Chromosome 1 open reading frame 127
- C1orf27: encoding protein Chromosome 1 open reading frame 27
- C1orf38: encoding protein Chromosome 1 open reading frame 38
- CCDC181: encoding protein Coiled-coil domain-containing protein 181
- DENND1B: hypothesized to be related to asthma
- FHAD1: encoding protein Forkhead-associated domain containing protein 1
- LOC100132287: uncharacterized protein
- LRRIQ3: encoding protein Leucine-rich repeats and IQ motif containing 3
- Shisa family member 4: encoding protein Shisa family member 4
- TINAGL1: encoding protein Tubulointerstitial nephritis antigen-like
p-arm
Partial list of the genes located on p-arm (short arm) of human chromosome 1: Script error: No such module "Template wrapper".Script error: No such module "Check for unknown parameters".
q-arm
Partial list of the genes located on q-arm (long arm) of human chromosome 1:
Script error: No such module "Template wrapper".Script error: No such module "Check for unknown parameters".
Diseases and disorders
There are 890 known diseases related to this chromosome.Script error: No such module "Unsubst". Some of these diseases are hearing loss, Alzheimer's disease, glaucoma and breast cancer. Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident.
Complete monosomy (only having one copy of the entire chromosome) is invariably lethal before birth.[11] Complete trisomy (having three copies of the entire chromosome) is lethal within days after conception.[11] Some partial deletions and partial duplications produce birth defects.
The following diseases are some of those related to genes on chromosome 1 (which contains the most known genetic diseases of any human chromosome):
<templatestyles src="Div col/styles.css"/>
- 1q21.1 deletion syndrome
- 1q21.1 duplication syndrome
- Alzheimer's disease
- Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
- Bipolar disorder
- Breast cancer
- Brooke Greenberg Disease (Syndrome X)
- Carnitine palmitoyltransferase II deficiency
- Charcot–Marie–Tooth disease, types 1 and 2
- collagenopathy, types II and XI
- congenital hypothyroidism
- Ehlers-Danlos syndrome
- Factor V Leiden thrombophilia
- Familial adenomatous polyposis
- galactosemia
- Gaucher disease
- Gaucher-like disease
- Gelatinous drop-like corneal dystrophy
- Glaucoma
- GLUT1 deficiency syndrome
- Hearing loss, autosomal recessive deafness 36
- Hemochromatosis
- Hepatoerythropoietic porphyria
- Homocystinuria
- Hutchinson Gilford progeria syndrome
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- Hypertrophic cardiomyopathy, autosomal dominant mutations of TNNT2; hypertrophy usually mild; restrictive phenotype may be present; may carry high risk of sudden cardiac death
- maple syrup urine disease
- medium-chain acyl-coenzyme A dehydrogenase deficiency
- Microcephaly
- Mitochondrial enoyl-CoA reductase protein-associated neurodegeneration (MEPAN syndrome)
- Muckle–Wells syndrome
- Nonsyndromic deafness
- Oligodendroglioma
- Parkinson disease
- Pheochromocytoma
- porphyria
- porphyria cutanea tarda
- popliteal pterygium syndrome
- prostate cancer
- Skraban–Deardorff syndrome
- Stickler syndrome
- TAR syndrome
- trimethylaminuria
- Usher syndrome
- Usher syndrome type II
- Van der Woude syndrome
- Variegate porphyria
- GLYT1 Encephalopathy
Cytogenetic band
Script error: No such module "Multiple image".
| Chr. | Arm[13] | Band[14] | ISCN start[15] |
ISCN stop[15] |
Basepair start |
Basepair stop |
Stain[16] | Density |
|---|---|---|---|---|---|---|---|---|
| 1 | p | 36.33 | 0 | 100 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 1 | p | 36.32 | 100 | 244 | Script error: No such module "val". | Script error: No such module "val". | gpos | 25 |
| 1 | p | 36.31 | 244 | 344 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 1 | p | 36.23 | 344 | 459 | Script error: No such module "val". | Script error: No such module "val". | gpos | 25 |
| 1 | p | 36.22 | 459 | 660 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 1 | p | 36.21 | 660 | 861 | Script error: No such module "val". | Script error: No such module "val". | gpos | 50 |
| 1 | p | 36.13 | 861 | 1206 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 1 | p | 36.12 | 1206 | 1321 | Script error: No such module "val". | Script error: No such module "val". | gpos | 25 |
| 1 | p | 36.11 | 1321 | 1521 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 1 | p | 35.3 | 1521 | 1651 | Script error: No such module "val". | Script error: No such module "val". | gpos | 25 |
| 1 | p | 35.2 | 1651 | 1780 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 1 | p | 35.1 | 1780 | 1895 | Script error: No such module "val". | Script error: No such module "val". | gpos | 25 |
| 1 | p | 34.3 | 1895 | 2210 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 1 | p | 34.2 | 2210 | 2411 | Script error: No such module "val". | Script error: No such module "val". | gpos | 25 |
| 1 | p | 34.1 | 2411 | 2770 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 1 | p | 33 | 2770 | 2986 | Script error: No such module "val". | Script error: No such module "val". | gpos | 75 |
| 1 | p | 32.3 | 2986 | 3273 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 1 | p | 32.2 | 3273 | 3416 | Script error: No such module "val". | Script error: No such module "val". | gpos | 50 |
| 1 | p | 32.1 | 3416 | 3732 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 1 | p | 31.3 | 3732 | 3976 | Script error: No such module "val". | Script error: No such module "val". | gpos | 50 |
| 1 | p | 31.2 | 3976 | 4206 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 1 | p | 31.1 | 4206 | 4852 | Script error: No such module "val". | Script error: No such module "val". | gpos | 100 |
| 1 | p | 22.3 | 4852 | 5210 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 1 | p | 22.2 | 5210 | 5440 | Script error: No such module "val". | Script error: No such module "val". | gpos | 75 |
| 1 | p | 22.1 | 5440 | 5741 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 1 | p | 21.3 | 5741 | 5957 | Script error: No such module "val". | Script error: No such module "val". | gpos | 75 |
| 1 | p | 21.2 | 5957 | 6029 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 1 | p | 21.1 | 6029 | 6244 | Script error: No such module "val". | Script error: No such module "val". | gpos | 100 |
| 1 | p | 13.3 | 6244 | 6459 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 1 | p | 13.2 | 6459 | 6660 | Script error: No such module "val". | Script error: No such module "val". | gpos | 50 |
| 1 | p | 13.1 | 6660 | 6861 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 1 | p | 12 | 6861 | 7048 | Script error: No such module "val". | Script error: No such module "val". | gpos | 50 |
| 1 | p | 11.2 | 7048 | 7119 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 1 | p | 11.1 | 7119 | 7335 | Script error: No such module "val". | Script error: No such module "val". | acen | |
| 1 | q | 11 | 7335 | 7579 | Script error: No such module "val". | Script error: No such module "val". | acen | |
| 1 | q | 12 | 7579 | 8483 | Script error: No such module "val". | Script error: No such module "val". | gvar | |
| 1 | q | 21.1 | 8483 | 8756 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 1 | q | 21.2 | 8756 | 8957 | Script error: No such module "val". | Script error: No such module "val". | gpos | 50 |
| 1 | q | 21.3 | 8957 | 9244 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 1 | q | 22 | 9244 | 9459 | Script error: No such module "val". | Script error: No such module "val". | gpos | 50 |
| 1 | q | 23.1 | 9459 | 9832 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 1 | q | 23.2 | 9832 | 10048 | Script error: No such module "val". | Script error: No such module "val". | gpos | 50 |
| 1 | q | 23.3 | 10048 | 10349 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 1 | q | 24.1 | 10349 | 10507 | Script error: No such module "val". | Script error: No such module "val". | gpos | 50 |
| 1 | q | 24.2 | 10507 | 10679 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 1 | q | 24.3 | 10679 | 10894 | Script error: No such module "val". | Script error: No such module "val". | gpos | 75 |
| 1 | q | 25.1 | 10894 | 11009 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 1 | q | 25.2 | 11009 | 11196 | Script error: No such module "val". | Script error: No such module "val". | gpos | 50 |
| 1 | q | 25.3 | 11196 | 11598 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 1 | q | 31.1 | 11598 | 11827 | Script error: No such module "val". | Script error: No such module "val". | gpos | 100 |
| 1 | q | 31.2 | 11827 | 11942 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 1 | q | 31.3 | 11942 | 12172 | Script error: No such module "val". | Script error: No such module "val". | gpos | 100 |
| 1 | q | 32.1 | 12172 | 12617 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 1 | q | 32.2 | 12617 | 12803 | Script error: No such module "val". | Script error: No such module "val". | gpos | 25 |
| 1 | q | 32.3 | 12803 | 13033 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 1 | q | 41 | 13033 | 13320 | Script error: No such module "val". | Script error: No such module "val". | gpos | 100 |
| 1 | q | 42.11 | 13320 | 13406 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 1 | q | 42.12 | 13406 | 13607 | Script error: No such module "val". | Script error: No such module "val". | gpos | 25 |
| 1 | q | 42.13 | 13607 | 13966 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 1 | q | 42.2 | 13966 | 14153 | Script error: No such module "val". | Script error: No such module "val". | gpos | 50 |
| 1 | q | 42.3 | 14153 | 14397 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 1 | q | 43 | 14397 | 14756 | Script error: No such module "val". | Script error: No such module "val". | gpos | 75 |
| 1 | q | 44 | 14756 | 15100 | Script error: No such module "val". | Script error: No such module "val". | gneg |
References
<templatestyles src="Reflist/styles.css" />
- ↑ http://vega.sanger.ac.uk/Homo_sapiens/mapview?chr=1 Chromosome size and number of genes derived from this database, retrieved 2012-03-11.
- ↑ Script error: No such module "Citation/CS1".
- ↑ Script error: No such module "Citation/CS1".
- ↑ Script error: No such module "citation/CS1".
- ↑ Script error: No such module "citation/CS1".
- ↑ Script error: No such module "citation/CS1".
- ↑ Script error: No such module "citation/CS1".
- ↑ Script error: No such module "citation/CS1".
- ↑ Script error: No such module "citation/CS1".
- ↑ Script error: No such module "citation/CS1".
- ↑ a b Script error: No such module "citation/CS1".
- ↑ Cite error: Script error: No such module "Namespace detect".Script error: No such module "Namespace detect".
- ↑ "p": Short arm; "q": Long arm.
- ↑ For cytogenetic banding nomenclature, see article locus.
- ↑ a b These values (ISCN start/stop) are based on the length of bands/ideograms from the ISCN book, An International System for Human Cytogenetic Nomenclature (2013). Arbitrary unit.
- ↑ gpos: Region which is positively stained by G banding, generally AT-rich and gene poor; gneg: Region which is negatively stained by G banding, generally CG-rich and gene rich; acen Centromere. var: Variable region; stalk: Stalk.
Script error: No such module "Check for unknown parameters".
Further reading
<templatestyles src="Refbegin/styles.css" />
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
External links
Script error: No such module "Side box".
- Script error: No such module "citation/CS1".
- Script error: No such module "citation/CS1".
- Script error: No such module "citation/CS1".
Script error: No such module "Navbox". Script error: No such module "Navbox".